Canonical Allele Identifier: CA5966895
Community Standard Title: NM_000506.5(F2):c.316+16G>A
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46720856G>A , CM000673.2:g.46720856G>A GRCh38
NC_000011.9:g.46742406G>A , CM000673.1:g.46742406G>A GRCh37
NC_000011.8:g.46698982G>A NCBI36
NG_008953.1:g.6664G>A , LRG_551:g.6664G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.316+16G>A MANE Select NP_000497.1:n.316+16G>A
ENST00000311907.10:c.316+16G>A MANE Select ENSP00000308541.5:n.316+16G>A
NM_000506.3:c.316+16G>A NP_000497.1:n.316+16G>A
NM_000506.4:c.316+16G>A , LRG_551t1:c.316+16G>A NP_000497.1:n.316+16G>A
NM_001311257.1:c.268+16G>A NP_001298186.1:n.268+16G>A
NM_001311257.2:c.268+16G>A NP_001298186.1:n.268+16G>A
ENST00000311907.9:c.316+16G>A ENSP00000308541.5:n.316+16G>A
ENST00000442468.1:c.286+16G>A ENSP00000387413.1:n.286+16G>A
ENST00000530231.5:c.316+16G>A ENSP00000433907.1:n.316+16G>A
XR_428840.2:n.360+16G>A
XR_428840.4:n.351+16G>A